Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR2
Variant:p.P78L

GRXCR2

35 papers

RefSeq Summary

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic senso...

Pfam Domains

GRXCR1-2_Caa 197–247UCSCGRXCR1/2, C-terminal domain

Gene Aliases

HGNC Name

glutaredoxin and cysteine rich domain containing 2

HGNC Alias Symbol

DFNB101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080516.2
p.P78L
c.233C>T
Surrounding Variants
1 paper
NM_001080516.2
p.M75I
c.225G>T
1 paper
NM_001080516.2
p.M75I
c.225G>C
1 paper
NM_001080516.2
p.M75I
c.225G>A
3 papers
NM_001080516.2
p.Q74E
c.220C>G
1 paper
NM_001080516.2
p.Q83*
c.247C>T
1 paper
NM_001080516.2
p.R84K
c.251G>A
1 paper
NM_001080516.2
p.R84fs
c.250_251fs
1 paper
NM_001080516.2
p.E69K
c.205G>A
1 paper
NM_001080516.2
p.V87_F88delFs
c.261_262delAC
1 paper
NM_001080516.2
p.E90K
c.268G>A
1 paper
NM_001080516.2
p.M61T
c.182T>C
1 paper
NM_001080516.2
p.G98C
c.292G>T
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